Congenital achiasma and see-saw nystagmus in VACTERL syndrome

  • Saurabh Prakash
  • , Serge O. Dumoulin
  • , Nancy Fischbein
  • , Brian A. Wandell
  • , Yaping Joyce Liao

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

A 29-year-old man with vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal defects, and limb defects (VACTERL) presented with headache, photophobia, and worsening nystagmus. He had near-normal visual acuity and visual fields, absent stereopsis, and see-saw nystagmus. Brain MRI revealed a thin remnant of the optic chiasm but normal-sized optic nerves. Functional MRI during monocular visual stimulation demonstrated non-crossing of the visual evoked responses in the occipital cortex, confirming achiasma. These findings have not previously been reported in VACTERL.

Original languageEnglish
Pages (from-to)45-48
Number of pages4
JournalJournal of Neuro-Ophthalmology
Volume30
Issue number1
DOIs
Publication statusPublished - 1 Mar 2010

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